Canonical Allele Identifier: PA2827013166
Gene: TSC2 HGNC NCBI

Linked Data

ClinVar Variation Id: 535866
ClinVar RCV Id: RCV000644078 RCV001014102 RCV000765268 RCV004003988
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305760.1:p.Ala475Ser
CA276737715
NM_001318831.2:c.1423G>T